Canonical Allele Identifier: CA402082958
Gene: HRH4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.24476936T>C , CM000680.2:g.24476936T>C GRCh38
NC_000018.9:g.22056900T>C , CM000680.1:g.22056900T>C GRCh37
NC_000018.8:g.20310898T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000256906.5:c.547T>C MANE Select ENSP00000256906.4:p.Phe183Leu
ENST00000256906.4:c.547T>C ENSP00000256906.4:p.Phe183Leu
ENST00000426880.2:c.283T>C ENSP00000402526.2:p.Phe95Leu
NM_001143828.1:c.283T>C NP_001137300.1:p.Phe95Leu
NM_001160166.1:c.*179T>C NP_001153638.1:n.*179T>C
NM_021624.3:c.547T>C NP_067637.2:p.Phe183Leu
XM_011526133.1:c.357+7985T>C XP_011524435.1:n.357+7985T>C
NM_021624.4:c.547T>C MANE Select NP_067637.2:p.Phe183Leu
NM_001143828.2:c.283T>C NP_001137300.1:p.Phe95Leu
NM_001160166.2:c.*179T>C NP_001153638.1:n.*179T>C